T. Mihalic Mosher

发表

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

R. Wilson, D. Koboldt, K. McBride, 2020, Cold Spring Harbor molecular case studies.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Peter White, Benjamin J. Kelly, 2018, Cold Spring Harbor molecular case studies.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

R. Wilson, D. Koboldt, K. McBride, 2019, European Journal of Human Genetics.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

R. Wilson, D. Koboldt, P. White, 2021, Cold Spring Harbor molecular case studies.

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

D. Koboldt, K. McBride, P. White, 2021, Clinical genetics.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant.

D. Koboldt, Kristy Lee, S. Rosenzweig, 2022, Rheumatology.